Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy
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Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Scope and Contents
Contents
Inherited retinal diseases (IRDs) are a common cause of visual impairment. IRD covers a set of genetically highly heterogeneous disorders with more than 150 genes associated with one or more clinical forms of IRD. Molecular genetic diagnosis has become increasingly important especially due to expanding number of gene therapy strategies under develo...
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Full title
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6362094
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6362094
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-018-38007-2
